Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

por Liu, Qin, Collin, Rob W. J., Cremers, Frans P. M., den Hollander, Anneke I., van den Born, L. Ingeborgh, Pierce, Eric A.
Publicado 2012

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

por Duijkers, Lonneke, van den Born, L. Ingeborgh, Neidhardt, John, Bax, Nathalie M., Pierrache, Laurence H. M., Klevering, B. Jeroen, Collin, Rob W. J., Garanto, Alejandro
Publicado 2018

CRB1-Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells

por Moekotte, Lude, Kuiper, Jonas J. W., Hiddingh, Sanne, Nguyen, Xuan-Thanh-An, Boon, Camiel J. F., van den Born, L. Ingeborgh, de Boer, Joke H., van Genderen, Maria M.
Publicado 2023

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

por Yzer, Suzanne, den Hollander, Anneke I., Lopez, Irma, Pott, Jan-Willem R., de Faber, Jan Tjeerd H.N., Cremers, Frans P.M., Koenekoop, Robert K., van den Born, L. Ingeborgh
Publicado 2012

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

por Littink, Karin W., Stappers, Patricia T. Y., Riemslag, Frans C. C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P. M., Collin, Rob W. J., van den Born, L. Ingeborgh
Publicado 2018

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

por Roosing, Susanne, Cremers, Frans P. M., Riemslag, Frans C. C., Zonneveld-Vrieling, Marijke N., Talsma, Herman E., Klessens-Godfroy, Francoise J. M., den Hollander, Anneke I., van den Born, L. Ingeborgh
Publicado 2017

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

por Sangermano, Riccardo, Khan, Mubeen, Cornelis, Stéphanie S., Richelle, Valerie, Albert, Silvia, Garanto, Alejandro, Elmelik, Duaa, Qamar, Raheel, Lugtenberg, Dorien, van den Born, L. Ingeborgh, Collin, Rob W.J., Cremers, Frans P.M.
Publicado 2018

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68

por Littink, Karin W., Stappers, Patricia T.Y., Riemslag, Frans C.C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P.M., Collin, Rob W.J., van den Born, L. Ingeborgh
Publicado 2018

Clinical course of cone dystrophy caused by mutations in the RPGR gene

por Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.
Publicado 2011

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

por van Huet, Ramon A. C., Pierrache, Laurence H.M., Meester-Smoor, Magda A., Klaver, Caroline C.W., van den Born, L. Ingeborgh, Hoyng, Carel B., de Wijs, Ilse J., Collin, Rob W. J., Hoefsloot, Lies H., Klevering, B. Jeroen
Publicado 2015

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

por Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.
Publicado 2014

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

por Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Publicado 2014

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

por Peeters, Manon H. C. A, Khan, Mubeen, Rooijakkers, Anoek A. M. B, Mulders, Timo, Haer‐Wigman, Lonneke, Boon, Camiel J. F., Klaver, Caroline C. W., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P. M., den Hollander, Anneke I., Dhaenens, Claire‐Marie, Collin, Rob W. J.
Publicado 2021

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

por Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne
Publicado 2018

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

por Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne
Publicado 2021

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acylt...

por Scholl, Hendrik P. N., Moore, Anthony T., Koenekoop, Robert K., Wen, Yuquan, Fishman, Gerald A., van den Born, L. Ingeborgh, Bittner, Ava, Bowles, Kristen, Fletcher, Emily C., Collison, Frederick T., Dagnelie, Gislin, Degli Eposti, Simona, Michaelides, Michel, Saperstein, David A., Schuchard, Ronald A., Barnes, Claire, Zein, Wadih, Zobor, Ditta, Birch, David G., Mendola, Janine D., Zrenner, Eberhart
Publicado 2015

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

por Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke
Publicado 2017

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

por Reurink, Janine, Dockery, Adrian, Oziębło, Dominika, Farrar, G. Jane, Ołdak, Monika, ten Brink, Jacoline B., Bergen, Arthur A., Rinne, Tuula, Yntema, Helger G., Pennings, Ronald J. E., van den Born, L. Ingeborgh, Aben, Marco, Oostrik, Jaap, Venselaar, Hanka, Plomp, Astrid S., Khan, M. Imran, van Wijk, Erwin, Cremers, Frans P. M., Roosing, Susanne, Kremer, Hannie
Publicado 2021

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies

por Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij‐Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., van den Born, L. Ingeborgh, Hoyng, Carel B., Meester‐Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.
Publicado 2021

Next-generation genetic testing for retinitis pigmentosa

por Neveling, Kornelia, Collin, Rob W.J., Gilissen, Christian, van Huet, Ramon A.C., Visser, Linda, Kwint, Michael P., Gijsen, Sabine J., Zonneveld, Marijke N., Wieskamp, Nienke, de Ligt, Joep, Siemiatkowska, Anna M., Hoefsloot, Lies H., Buckley, Michael F., Kellner, Ulrich, Branham, Kari E., den Hollander, Anneke I., Hoischen, Alexander, Hoyng, Carel, Klevering, B. Jeroen, van den Born, L. Ingeborgh, Veltman, Joris A., Cremers, Frans P.M., Scheffer, Hans
Publicado 2012